Subcutaneous neurofibromas

Symptom Information:

Symptom ID: HPO:0100698
Synonyms:
Skin neurofibroma [Orphanet:23710]
Cutaneous neurofibroma (disorder) [Orphanet:23710]
Cutaneous neurofibroma [Orphanet:23710]
Cutaneous neurofibromas/facial angiofibromas/Koenen tumors [Orphanet:23710]
Neurofibromas, cutaneous (86%) [OMIM:Neurofibromas, cutaneous (86%)]
Neurofibromas, subcutaneous (76%) [OMIM:Neurofibromas, subcutaneous (76%)]
Quality:
Cross references:
Orphanet:23710 "Cutaneous neurofibromas/facial angiofibromas/Koenen tumors" [Orphanet:23710]
OMIM: "Neurofibromas, cutaneous (86%)" [OMIM:Neurofibromas, cutaneous (86%)]
OMIM: "Neurofibromas, subcutaneous (76%)" [OMIM:Neurofibromas, subcutaneous (76%)]
UMLS:C0346057 "Cutaneous neurofibroma" [Orphanet:23710]
Is a (Direct Parents):
HPO         Neurofibromas
Orphanet Neoplasm of the skin
Orphanet Adenoma sebaceum
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Neoplasm of the skin(HPO:0008069)
                Neurofibromas(HPO:0001067)
                   Subcutaneous neurofibromas(HPO:0100698)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system morphology(HPO:0012639)
             Abnormal peripheral nervous system morphology(HPO:0000759)
                Neoplasm of the peripheral nervous system(HPO:0100007)
                   Neurofibromas(HPO:0001067)
                      Subcutaneous neurofibromas(HPO:0100698)
          Neoplasm of the nervous system(HPO:0004375)
             Neoplasm of the peripheral nervous system(HPO:0100007)
                Neurofibromas(HPO:0001067)
                   Subcutaneous neurofibromas(HPO:0100698)
       Neoplasm(HPO:0002664)
          Neoplasm by histology(HPO:0011792)
             Fibrous tissue neoplasm(HPO:0012316)
                Fibroma(HPO:0010614)
                   Neurofibromas(HPO:0001067)
                      Subcutaneous neurofibromas(HPO:0100698)
          Neoplasm by anatomical site(HPO:0011793)
             Neoplasm of the skin(HPO:0008069)
                Neurofibromas(HPO:0001067)
                   Subcutaneous neurofibromas(HPO:0100698)
             Neoplasm of the nervous system(HPO:0004375)
                Neoplasm of the peripheral nervous system(HPO:0100007)
                   Neurofibromas(HPO:0001067)
                      Subcutaneous neurofibromas(HPO:0100698)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
Lymphangioleiomyomatosis (Orphanet:538)